glycosylphosphatidylinositol biosynthesis defect 25
MONDO:0859271Mondo
Findings
No curated finding names glycosylphosphatidylinositol biosynthesis defect 25 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ankle flexion contractureHPOHP:0006466
- 1 of 1 reported patient
- Coarse hairHPOHP:0002208
- 1 of 1 reported patient
- Decreased circulating alkaline phosphatase activityHPOHP:0003282
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Inverted nipplesHPOHP:0003186
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- C18orf32HGNC:31690
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of